rs7091875

Variant names:

• chr10-22741353-G-A
• rs7091875

Your query was ambiguous. Multiple possible variants found:

• chr10-22741353-G-A
• chr10-22741353-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.358 in 151,838 control chromosomes in the GnomAD database, including 10,658 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.36 (10658 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.16

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.512 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.358 AC: 54333 AN: 151720 Hom.: 10647 Cov.: 31

Gnomad AFR AF: 0.518

Gnomad AMI AF: 0.265

Gnomad AMR AF: 0.268

Gnomad ASJ AF: 0.350

Gnomad EAS AF: 0.152

Gnomad SAS AF: 0.366

Gnomad FIN AF: 0.222

Gnomad MID AF: 0.404

Gnomad NFE AF: 0.319

Gnomad OTH AF: 0.376

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.358 AC: 54381 AN: 151838 Hom.: 10658 Cov.: 31 AF XY: 0.350 AC XY: 25986 AN XY: 74176

Gnomad4 AFR AF: 0.518

Gnomad4 AMR AF: 0.268

Gnomad4 ASJ AF: 0.350

Gnomad4 EAS AF: 0.151

Gnomad4 SAS AF: 0.365

Gnomad4 FIN AF: 0.222

Gnomad4 NFE AF: 0.319

Gnomad4 OTH AF: 0.376

Alfa AF: 0.319 Hom.: 12115

Bravo AF: 0.366

Asia WGS AF: 0.265 AC: 921 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.6
DANN	Benign	0.31

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7091875; hg19: chr10-23030282;